Understanding a Gene Linked to Pigmentation and Human Health
Genetic studies of a pleiotropic transmembrane protease: insight from color variation in non-model organisms
['FUNDING_R01'] · STANFORD UNIVERSITY · NIH-11131244
This project looks at how a specific gene, first noticed for its role in animal coat color, might be important for human health and disease.
Quick facts
| Phase | ['FUNDING_R01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | STANFORD UNIVERSITY (nih funded) |
| Locations | 1 site (STANFORD, UNITED STATES) |
| Trial ID | NIH-11131244 on ClinicalTrials.gov |
What this research studies
This research explores how changes in pigmentation in animals, like cats and zebras, can reveal important genetic pathways relevant to human health. Our team found a key connection between a gene called Taqpep and another protein (Dkk4) by studying coat color variations in domestic cats. Early findings in mice show that Taqpep plays a role in various body parts, including hair, the digestive system's nerves, and the roof of the mouth. By combining genetic discoveries in animals with laboratory experiments, we aim to uncover the molecular details of these pathways. This work helps us understand how Taqpep influences tissues and processes directly related to human biology and potential diseases.
Who could benefit from this research
Good fit: This foundational research does not involve direct patient participation at this stage.
Not a fit: Patients seeking immediate treatment or diagnostic options will not directly benefit from this early-stage genetic research.
Why it matters
Potential benefit: Learning more about the Taqpep gene could help us understand and potentially treat human diseases affecting hair, the gut, or palate development.
How similar studies have performed: Using genetic variations in animals to uncover insights into human biology is a well-established and successful approach in genetic research.
Where this research is happening
STANFORD, UNITED STATES
- STANFORD UNIVERSITY — STANFORD, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: BARSH, GREGORY STEFAN — STANFORD UNIVERSITY
- Study coordinator: BARSH, GREGORY STEFAN
About this research
- This is an active NIH-funded research project — typically early-stage science, not a clinical trial accepting patient enrollment.
- Some NIH-funded labs run parallel clinical studies or seek volunteers for related work. To check, contact the principal investigator or institution listed above.
- For full project details, budget, and progress reports, visit the official NIH RePORTER page below.
Conditions: Candidate Disease Gene